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Pharmacogenetic Dpyd Allele Variant Frequencies: A Comprehensive Analysis Across an Ancestrally Diverse Iranian Population Publisher Pubmed



Sarhangi N1 ; Rouhollah F1 ; Niknam N2, 3 ; Sharifi F4 ; Nikfar S5 ; Larijani B5 ; Patrinos GP6, 7, 8 ; Hasanzad M9
Authors
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Authors Affiliations
  1. 1. Medical Genomics Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, 1916893813, Iran
  2. 2. Department of Pharmacoeconomics and Pharmaceutical Administration, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, 1417614411, Iran
  3. 3. LifeandMe, Inc., Tehran, 1497719825, Iran
  4. 4. Elderly Health Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, 1411713119, Iran
  5. 5. Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, 1411713119, Iran
  6. 6. School of Health Sciences, Department of Pharmacy, University of Patras, Patras, Greece
  7. 7. College of Medicine and Health Sciences, Department of Genetics and Genomics, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates
  8. 8. Zayed Center for Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates
  9. 9. Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, 1411713119, Iran

Source: DARU, Journal of Pharmaceutical Sciences Published:2024


Abstract

Background: Cancer treatment has improved over the past decades, but many cancer patients still experience adverse drug reactions (ADRs). Pharmacogenomics (PGx), known as personalized treatment, is a pillar of precision medicine that aims to optimize the efficacy and safety of medications by studying the germline variations. Germline variations in the DPYD lead to significant ADRs. The present cross-sectional study aims to evaluate the allele frequency of the DPYD gene variations in the Iranian population to provide insights into personalized treatment decisions in the Iranian population. Methods: The allele frequency of 51 pharmacogenetic variations in the clinically relevant DPYD was assessed in a representative sample set of 1142 unrelated Iranian individuals and subpopulations of different ethnic groups who were genotyped using the Infinium Global Screening Array-24 BeadChip. Results: The genotyping assay revealed eight pharmacogenetic variants including DPYD rs1801265 (c.85T > C; DPYD*9A), rs2297595 (c.496A > G), rs1801158 (c.1601G > A; DPYD*4), rs1801159 (c.1627A > G; DPYD*5), rs1801160 (c.2194G > A; DPYD*6), rs17376848 (c.1896T > C), rs56038477 (c.1236G > A; HapB3), and rs75017182 (c.1129-5923C > G; HapB3) with minor allele frequency (MAF) ≥ 1%. Conclusion: The results of the study reveal significant genetic variations among Iranian population that could significantly influence clinical decision-making. These variants, with their potential to explain the substantial variability in drug response phenotypes among different populations, shed light on a crucial aspect of pharmacogenomics. These findings not only provide valuable insights but also inspire the design and implementation of future pharmacogenomic clinical trials, motivating further research in this crucial area. Graphical abstract: (Figure presented.) © The Author(s), under exclusive licence to Tehran University of Medical Sciences 2024.
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